Novel diagnostic approach to citrin deficiency: Analysis of citrin protein in lymphocytes

Molecular Genetics and Metabolism - Tập 90 - Trang 30-36 - 2007
Daisuke Tokuhara1, Mikio Iijima2, Akiko Tamamori1, Toshihiro Ohura3, Junji Takaya4, Shunichi Maisawa5, Keiko Kobayashi2, Takeyori Saheki2, Tsunekazu Yamano1, Yoshiyuki Okano1
1Department of Pediatrics, Osaka City University Graduate School of Medicine, 1-4-3 Asahimachi, Abenoku, Osaka 545-8585, Japan
2Department of Molecular Metabolism and Biochemical Genetics, Kagoshima University Graduate School of Medical and Dental Sciences, 8-35-1 Sakuragaoka, Kagoshima 890-8544, Japan
3Department of Pediatrics, Tohoku University School of Medicine, 1-1 Seiryo-machi, Aoba-ku, Sendai 980-8574, Japan
4Department of Pediatrics, Kansai Medical University, 10-15 Fumizonocho, Moriguchi, Osaka 570-8506, Japan
5Department of Pediatrics, Morioka Children’s Hospital, 11-14 Uedaazamatsuyashiki, Morioka, Iwate 020-0102, Japan

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